Varaico: Literature-Extracted Genetic Variants

PCSK1

439 papers

RefSeq Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branc...

Pfam Domains

S8_pro-domainaa 34–110UCSCPeptidase S8 pro-domain

Peptidase_S8aa 158–442UCSCSubtilase family

P_proproteinaa 504–591UCSCProprotein convertase P-domain

Proho_convertaa 713–751UCSCProhormone convertase enzyme

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 1

HGNC Previous Symbol

NEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000439.5

p.T210P

c.628A>C

Surrounding Variants

3 papers

NM_000439.5

p.T210S

c.628A>T

1 paper

NM_000439.5

p.T210A

c.628A>G

2 papers

NM_000439.5

p.T210S

c.629C>G

1 paper

NM_000439.5

p.T210N

c.629C>A

1 paper

NM_000439.5

p.G209V

c.626G>T

1 paper

NM_000439.5

p.G209A

c.626G>C

1 paper

NM_000439.5

p.G209E

c.626G>A

12 papers

NM_000439.5

p.G209R

c.625G>C

12 papers

NM_000439.5

p.G209R

c.625G>A

1 paper

NM_000439.5

p.R211G

c.631A>G

1 paper

NM_000439.5

p.R211I

c.632G>T

1 paper

NM_000439.5

p.R211T

c.632G>C